Varaico: Literature-Extracted Genetic Variants

KIAA0319

462 papers

RefSeq Summary

This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of th...

Pfam Domains

KIAA0319_Naa 22–107UCSCDyslexia-associated protein KIAA0319 N-terminal domain

K319L-like_PKDaa 339–424UCSCK319L-like, PKD domain

K319L-like_PKDaa 441–521UCSCK319L-like, PKD domain

K319L-like_PKDaa 533–617UCSCK319L-like, PKD domain

K319L-like_PKDaa 629–711UCSCK319L-like, PKD domain

Gene Aliases

HGNC Alias Symbol

NMIG

HGNC Alias Name

neuronal migration

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014809.4

p.F419_N421del3

c.1255_1262del9

Surrounding Variants

1 paper

NM_014809.4

p.V424fs

c.1270_1271fs

1 paper

NM_014809.4

p.F419delFs

c.1255delA

1 paper

NM_014809.4

p.V424A

c.1271T>C

1 paper

NM_014809.4

p.G418E

c.1253G>A

1 paper

NM_014809.4

p.P426L

c.1277C>T

3 papers

NM_014809.4

p.E417*

c.1249G>T

2 papers

NM_014809.4

p.E417K

c.1249G>A

1 paper

NM_014809.4

p.A427T

c.1279G>A

1 paper

NM_014809.4

p.N413_A414insFs

c.1239_1240insA

1 paper

NM_014809.4

p.E412A

c.1235A>C

3 papers

NM_014809.4

p.V409A

c.1226T>C

2 papers

NM_014809.4

p.V409I

c.1225G>A